Canonical Allele Identifier: CA10606324

Gene: SMCHD1

Linked Data

• ClinVar Variation Id: 289088
• ClinVar RCV Id: RCV000263327 ; RCV002518068
• dbSNP Id: rs886044081
• MyVariant Identifiers: chr18:g.2739525A>G (hg19) ; chr18:g.2739527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.2739527A>G , CM000680.2:g.2739527A>G	GRCh38
NC_000018.9:g.2739525A>G , CM000680.1:g.2739525A>G	GRCh37
NC_000018.8:g.2729525A>G	NCBI36
NG_031972.1:g.88640A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583441.2:n.1200+7A>G
ENST00000686763.1:c.319+7A>G	ENSP00000510263.1:n.319+7A>G
ENST00000686864.1:c.276+7A>G
ENST00000688342.1:c.3514+7A>G	ENSP00000508422.1:n.3514+7A>G
ENST00000688708.1:n.2170+7A>G
ENST00000690757.1:n.971+7A>G
ENST00000693213.1:n.2792+7A>G
ENST00000320876.11:c.3514+7A>G MANE Select	ENSP00000326603.7:n.3514+7A>G
ENST00000320876.10:c.3514+7A>G	ENSP00000326603.6:n.3514+7A>G
ENST00000577880.5:c.1927+7A>G	ENSP00000463049.1:n.1927+7A>G
ENST00000584897.5:c.1334+7A>G
NM_015295.2:c.3514+7A>G	NP_056110.2:n.3514+7A>G
XM_011525642.1:c.3514+7A>G	XP_011523944.1:n.3514+7A>G
XM_011525643.1:c.3514+7A>G	XP_011523945.1:n.3514+7A>G
XM_011525644.1:c.3130+7A>G	XP_011523946.1:n.3130+7A>G
XM_011525645.1:c.2950+7A>G	XP_011523947.1:n.2950+7A>G
XM_011525646.1:c.3514+7A>G	XP_011523948.1:n.3514+7A>G
XM_011525647.1:c.3514+7A>G	XP_011523949.1:n.3514+7A>G
XR_430039.1:n.3703+7A>G
XR_935054.1:n.3703+7A>G
XR_935055.1:n.3703+7A>G
XM_011525643.2:c.3514+7A>G	XP_011523945.1:n.3514+7A>G
XM_017025684.1:c.2950+7A>G	XP_016881173.1:n.2950+7A>G
XR_001753172.1:n.3703+7A>G
XR_001753173.1:n.3703+7A>G
XR_001753174.1:n.3703+7A>G
XR_001753175.1:n.3703+7A>G
XR_001753176.1:n.3703+7A>G
XR_001753177.1:n.3703+7A>G
XR_001753178.1:n.3703+7A>G
XR_001753179.1:n.3703+7A>G
XR_935055.2:n.3703+7A>G
NM_015295.3:c.3514+7A>G MANE Select	NP_056110.2:n.3514+7A>G